| Full text | |
| Author(s): Show less - |
Dantas, Vitor G. L.
[1]
;
Freitas, Erika L.
[1]
;
Della-Rosa, Valter A.
[2]
;
Lezirovitz, Karina
[1, 3]
;
de Moraes, Ana Maria S. M.
[4]
;
Ramos, Silvia B.
[5]
;
Oiticica, Jeanne
[3]
;
Alves, Leandro U.
[1]
;
Pearson, Peter L.
[1]
;
Rosenberg, Carla
[1]
;
Mingroni-Netto, Regina C.
[1]
Total Authors: 11
|
| Affiliation: | [1] Univ Sao Paulo, Dept Genet & Evolutionary Biol, Biosci Inst, Sao Paulo, SP - Brazil
[2] Univ Estadual Maringa, Dept Biotechnol Genet & Cellular Biol, Maringa, Parana - Brazil
[3] Univ Sao Paulo, Sch Med, Clin Hosp, Otolaryngol Lab, LIM32, Sao Paulo, SP - Brazil
[4] Univ Estadual Maringa, Dept Med, Maringa, Parana - Brazil
[5] Univ Ctr Maringa, Maringa, Parana - Brazil
Total Affiliations: 5
|
| Document type: | Journal article |
| Source: | INTERNATIONAL JOURNAL OF AUDIOLOGY; v. 54, n. 9, p. 593-598, 2015. |
| Web of Science Citations: | 1 |
| Abstract | |
Objective: To identify novel genetic causes of syndromic hearing loss in Brazil. Design: To map a candidate chromosomal region through linkage studies in an extensive Brazilian family and identify novel pathogenic variants using sequencing and array-CGH. Study sample: Brazilian pedigree with individuals affected by BO syndrome characterized by deafness and malformations of outer, middle and inner ear, auricular and cervical fistulae, but no renal abnormalities. Results: Whole genome microarray-SNP scanning on samples of 11 affected individuals detected a multipoint Lod score of 2.6 in the EYA1 gene region (chromosome 8). Sequencing of EYA1 in affected patients did not reveal pathogenic mutations. However, oligonucleotide-array-CGH detected a duplication of 71.8Kb involving exons 4 to 10 of EYA1 (heterozygous state). Real-time-PCR confirmed the duplication in fourteen of fifteen affected individuals and absence in 13 unaffected individuals. The exception involved a consanguineous parentage and was assumed to involve a different genetic mechanism. Conclusions: Our findings implicate this EYA1 partial duplication segregating with BO phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the BOR/BO syndrome. (AU) | |
| FAPESP's process: | 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes |
| Grantee: | Carla Rosenberg |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 09/05620-1 - Investigation of submicroscopic genomic alterations by array CGH in specific phenotypes: non-syndromic hereditary deafness and defects of müllerian development |
| Grantee: | Erika Cristina Lopes Burrone de Freitas |
| Support Opportunities: | Scholarships in Brazil - Post-Doctoral |
| FAPESP's process: | 98/14254-2 - The Human Genome Research Center |
| Grantee: | Mayana Zatz |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |